BMPR1A

bone morphogenetic protein receptor type 1A
OMIM: 601299, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green BMPR1A in Colorectal cancer pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Colorectal cancer
Green BMPR1A in Adult solid tumours for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.40	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Hereditary Mixed Polyposis Syndrome
Green BMPR1A in GI tract tumours Level 3: GI tract Level 2: Tumour syndromes Version 1.22	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert List Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Expert Review Green Phenotypes Gastrointestinal and Colorectal Cancer High Risk Colorectal Cancer juvenile polyposis Polyposis, juvenile intestinal, 174900 Polyposis syndrome, hereditary mixed, 2, 610069 Juvenile polyposis syndrome, infantile form, 174900 Juvenile Polyposis Syndrome Polyposis syndrome, hereditary mixed, 2, 610069 Juvenile polyposis syndrome, infantile form, 174900
Green BMPR1A in Childhood solid tumours Level 3: Childhood Tumours Level 2: Tumour syndromes Version 4.18 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Expert list Expert List Phenotypes Polyposis, juvenile intestinal, 174900 Hereditary Mixed Polyposis Syndrome 2, 610069 Hereditary Mixed Polyposis Syndrome
Green BMPR1A in Inherited polyposis and early onset colorectal cancer - germline testing Version 2.11 Latest signed off version: v2.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Expert List Phenotypes Polyposis syndrome, hereditary mixed, 2, OMIM:610069 Polyposis, juvenile intestinal, OMIM:174900
Green BMPR1A in Childhood solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.27	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Hereditary Mixed Polyposis Syndrome
Green BMPR1A in Adult solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 2.29 Latest signed off version: v2.2 (18 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Expert list Phenotypes Hereditary Mixed Polyposis Syndrome
Red BMPR1A in Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.51	review	Not set	Sources UKGTN
Amber BMPR1A in Structural eye disease Version 3.79 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS
Green BMPR1A in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Polyposis syndrome, hereditary mixed, 2, 610069 Juvenile polyposis syndrome, infantile form, 174900 Polyposis, juvenile intestinal, 174900